Metabolic and Enzyme Laboratory

The Metabolic and Enzyme Laboratory  provide diagnostic services for patients suffering from metabolic diseases.  In addition, the laboratory  is actively involved in biochemical genetic research related activities.

Laboratory Highlights

The laboratory routinely carries out analyses of the following metabolites and enzymes:

• Organic acids in urine
• Carnitine and acylcarnitines in blood/plasma
• Creatine and guanidinoacetate in urine
• Very long-chain fatty and branched-chain fatty acids (phytanic & pristanic) in plasma
• Orotic acid in urine
• Free fatty acids in plasma
• Mucopolysaccharides in urine
• Isoelectric focusing of transferrins (CDG) in plasma/serum
• Carotene (Vitamin A) in plasma
• Citrate and oxaloacetate in urine
• Biotinidase in plasma
• Lysosomal enzymes in blood cells (list of enzymes available upon request)
• Galactose 1P uridyltransferase activity  in blood
• Mitochondrial respiratory chain enzymatic analysis (complexes I-IV) in muscle

Please note that all tests are required to be pre-coordinated with the laboratory before shipping

A large number of methodologies are employed to carry out these analyses.  They include HPLC, GC-MS (gas chromatography – mass spectrometry), amino acid analysis and Tandem Mass Spectrometry (LC-MS-MS), spectrophotometry an electrophoresis

Laboratory Director and Team

Metabolic and Enzyme Laboratory is directed by associate professor Ann Saada( Reisch), Ph.D.,  with expertise in mitochondrial diseases and inborn errors of metabolism.

She also heads the laboratory’s  ISO 9001.2015  Quality management system and  participation in the ERNDIM (European Research Network Inherited Disorders of Metabolism) Quality Control Scheme

The test are performed by certified laboratory personnel with M.Sc./B.Sc.  degrees in biology ,chemistry or medical laboratory sciences.